通过全外显子组测序在患有埃默里-德赖富斯肌营养不良症的双胞胎中鉴定出一种新突变。
A Novel Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular Dystrophy.
作者信息
Dai Xiafei, Luo Rong, Chen Yang, Zheng Chenqing, Tang Yibin, Zhang Hongmei, Su Ye, He Tao, Li Xiaoping
机构信息
School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, China.
Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, China.
出版信息
Case Rep Genet. 2020 Aug 24;2020:2071738. doi: 10.1155/2020/2071738. eCollection 2020.
This case reports a novel hemizygous frameshift mutation (c.487delA, p.Ser163fs) in twins of an Emery-Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.
本病例报告了一个患有严重心脏受累和轻度肌肉无力的Emery-Dreifuss型肌营养不良症家族双胞胎中的一种新型半合子移码突变（c.487delA，p.Ser163fs）。他们的母亲携带相同的杂合突变。
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